Lv661
3090 积分 2025-05-15 加入
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
4天前
已完结
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families
15天前
已完结
First trimester megacystis caused by a homozygous variant in MYL9
19天前
已完结
Spectrum of variants in a large Chinese Gitelman syndrome cohort
1个月前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
1个月前
已完结
[Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review]
3个月前
已完结
Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients
3个月前
已完结
Fetal hydrops caused by a novel pathogenic MECOM variant
3个月前
已完结
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
3个月前
已完结
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
3个月前
已完结
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